ArticleAmerican journal of medical genetics. Part A2006
Schizophrenia in an adult with 6p25 deletion syndrome.
Article in American journal of medical genetics. Part A, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 29 citations in OpenAlex.
- Review
- Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.Frontiers in genetics · 2023Article
- Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.BMC medical genomics · 2015Article
- Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.Human molecular genetics · 2013Article
- Novel retrotransposed imprinted locus identified at human 6p25.Nucleic acids research · 2011Article
- A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.American journal of medical genetics. Part A · 2011Article
- Primary cellular meningeal defects cause neocortical dysplasia and dyslamination.Annals of neurology · 2010Article
- Clustering by neurocognition for fine mapping of the schizophrenia susceptibility loci on chromosome 6p.Genes, brain, and behavior · 2009Article
- Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies.Molecular vision · 2009Article
- Chromosome abnormalities, mental retardation and the search for genes in bipolar disorder and schizophrenia.Neurotoxicity research · 2008Review
- Schizopsychotic symptom-profiles and biomarkers: beacons in diagnostic labyrinths.Neurotoxicity research · 2008Review
- Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development.Proceedings of the National Academy of Sciences of the United States of America · 2007Article
- QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.Nucleic acids research · 2007Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Chromosomal deletions at 6p25-p24 are rare findings in patients with developmental delay. There is limited information about the adult phenotype. We present a 36-year-old patient with schizophrenia, mild mental retardation, progressive hearing deficits, and characteristic facial features. Ocular (Axenfeld-Rieger anomaly) abnormalities were diagnosed in infancy; vision, however, has remained unimpaired. There were no other major congenital anomalies. Brain imaging showed only minor changes. There was no family history of intellectual deficits or psychosis. Karyotyping revealed a 6p25 deletion, and detailed fluorescence in situ hybridization (FISH) analyses using 23 probes confirmed a 6.7 Mb 6p25-pter deletion. The breakpoint is near a possible 6p25-p24 locus for schizophrenia. Psychotic illness may be part of the neurodevelopmental abnormalities and long-term outcome of patients with 6p terminal deletions. Other similarly affected patients likely remain to be diagnosed in adult populations of schizophrenia and/or mental retardation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.